Variant report

Variant	rs13034665
Chromosome Location	chr2:153194908-153194909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2002558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2003332	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2345878	0.83[AMR][1000 genomes]
rs35953368	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3887026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4035882	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4311022	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4519464	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4664100	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5008216	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55860423	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56111292	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56187233	0.85[AMR][1000 genomes]
rs6722740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759036	0.85[AMR][1000 genomes]
rs7583872	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153193200-153195600	Weak transcription	Small Intestine	intestine
2	chr2:153193600-153197600	Weak transcription	Fetal Heart	heart
3	chr2:153193800-153195000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:153193800-153199200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:153193800-153211000	Weak transcription	HSMMtube	muscle
6	chr2:153194000-153195000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:153194000-153195000	Active TSS	Psoas Muscle	Psoas
8	chr2:153194000-153196000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:153194000-153196400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:153194000-153200000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:153194000-153200200	Weak transcription	Fetal Intestine Large	intestine
12	chr2:153194000-153201200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:153194000-153203600	Weak transcription	Osteobl	bone
14	chr2:153194000-153206600	Weak transcription	Pancreas	Pancrea
15	chr2:153194200-153195000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:153194200-153195000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:153194200-153195400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:153194200-153196200	Enhancers	Fetal Brain Male	brain
19	chr2:153194200-153198000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr2:153194200-153224400	Weak transcription	Aorta	Aorta
21	chr2:153194400-153195000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:153194400-153195000	Enhancers	Hela-S3	cervix
23	chr2:153194400-153196000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:153194400-153196200	Enhancers	Colon Smooth Muscle	Colon
25	chr2:153194400-153197600	Weak transcription	Right Atrium	heart
26	chr2:153194400-153200600	Weak transcription	NHDF-Ad	bronchial
27	chr2:153194400-153201200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:153194400-153202800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:153194600-153195200	Weak transcription	Ovary	ovary
30	chr2:153194600-153195400	Flanking Active TSS	HepG2	liver
31	chr2:153194600-153195600	Weak transcription	Fetal Lung	lung
32	chr2:153194600-153196000	Weak transcription	Fetal Stomach	stomach
33	chr2:153194600-153196200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:153194600-153196200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:153194600-153196200	Weak transcription	Adipose Nuclei	Adipose
36	chr2:153194600-153196200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:153194600-153196200	Enhancers	Fetal Brain Female	brain
38	chr2:153194600-153196200	Enhancers	NHEK	skin
39	chr2:153194600-153196800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:153194600-153197000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:153194600-153197200	Enhancers	A549	lung
42	chr2:153194600-153197400	Weak transcription	Placenta	Placenta
43	chr2:153194600-153197400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:153194600-153197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:153194600-153197800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:153194600-153198000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:153194600-153198800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:153194600-153199000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:153194600-153199000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:153194600-153199200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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